| Gene Symbol | DTNBP1 |
|---|---|
| Entrez Gene | 84062 |
| Alt Symbol | BLOC1S8, DBND, HPS7, My031, SDY |
| Species | Human |
| Gene Type | protein-coding |
| Description | dystrobrevin binding protein 1 |
| Other Description | BLOC-1 subunit 8|Hermansky-Pudlak syndrome 7 protein|biogenesis of lysosomal organelles complex-1, subunit 8|biogenesis of lysosome-related organelles complex 1 subunit 8|dysbindin|dysbindin-1 |
| Swissprots | Q9H3J5 Q96NV2 Q5THY4 A8K3V3 Q96EV8 Q9H0U2 Q5THY3 |
| Accessions | EAW55359 EAW55360 EAW55361 EAW55362 EAW55363 EAW55364 Q96EV8 AF061734 AAG43145 AF394226 AAL46636 AI097393 AK054593 BAB70770 AK290718 BAF83407 AK310590 AL136637 CAB66572 AY265460 AAP91870 BC011912 AAH11912 BE793298 BQ056746 BQ108775 BX394617 EU831643 ACE87243 EU831727 ACE86561 EU832348 ACE87605 EU832433 ACE86918 XM_005249447 XP_005249504 XM_011514936 XP_011513238 XM_011514937 XP_011513239 NM_001271667 NP_001258596 NM_001271668 NP_001258597 NM_001271669 NP_001258598 NM_032122 NP_115498 NM_183040 NP_898861 NR_036448 |
| Function | Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic rel |
| Subcellular Location | Isoform 3: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302}; Peripheral membrane protein {ECO:0000269|PubMed:21390302}; Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Note=Exclusivley cytoplasmic. Predominantly found in the postsynaptic density (PSD). Little association with synaptic vesicles. The BLOC-1 complex associates with the BLOC-2 complex in early e |
| Tissue Specificity | Detected in brain, in neurons and in neuropil. Isoform 1 is expressed in the cerebral cortex, and hippocampal frontal (HF). Specific expression in the posterior half of the superior temporal gyrus (pSTG). Higher expression of isoform 2 and 3 in the HF than in the pSTG while isoform 1 shows no difference in expression in these areas. In the HF, detected in dentate gyrus (DG) and in pyramidal cells of hippocampus CA2 and CA3 (at protein level). Expressed in all principal neuronal populations of the HF, namely pyramidal neurons in the subiculum and CA1-3, granule cells in the dense cell layer of the DG (DGg), and polymorph cells in the hilus of the DG (DGh). Maximal levels in CA2, CA3, and DGh. Isoform 2 not expressed in the cerebral cortex. {ECO:0000269|PubMed:16980328}. |